Sökning: "heme biosynthesis"

Visar resultat 21 - 25 av 25 avhandlingar innehållade orden heme biosynthesis.

1. 21. Acute intermittent porphyria : studies of chronic disease, recombinant enzyme therapy and late complications

   Författare :Eliane Sardh; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Acute intermittent porphria; porphobilinogen; 5-aminolevulinic acid; porphobilinogen deaminase; enzyme therapy; acute porphyria attack; chronic active disease; late complications;

   Sammanfattning : This thesis comprise five studies on patients with acute intermittent porphyria (AIP) observed under different clinical conditions associated with the disorder. They have generally been monitored at the porphyria out-patient clinic in Stockholm South Hospital, and were biochemically monitored at Porphyria Centre Sweden. LÄS MER

3. 22. Studies on human sterol 27-hydroxylase with emphasis on its mechanism of regulation and metabolic consequences of a deficient enzyme

   Författare :Magnus Hansson; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Sterol 27-hydroxylase (CYP27A1) is a mitochondrial cytochrome P-450 enzyme present in most animal cells. In hepatocytes, CYP27A1 has an important role in connection with biosynthesis of bile acids from cholesterol. LÄS MER

4. 23. Clinical and experimental studies on HFE and other genes involved in iron homeostasis

   Författare :Petra Holmström; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Hereditary hemochromatosis; iron overload; HFE gene mutations; porphyria cutanea tarda; HFE gene; iron metabolism-related genes; iron homeostasis; liver; inflammation; and hepatocellular carcinoma;

   Sammanfattning : In this thesis, the clinical significance of HFE mutations was further investigated, and the molecular mechanisms underlying the disturbed iron homeostasis during hemochromatosis, inflammation and hepatocellular carcinoma were studied in experimental models. Hereditary hemochromatosis (HH) is a prevalent autosomal recessive iron overload disorder caused by increased intestinal absorption and deposition of iron in vital organs, leading to organ damage. LÄS MER

5. 24. Epidemiological, clinical anf pathogenetic studies of acute intermittent porphyria

   Författare :Ingemar Bylesjö; Christer Andersson; Pertti Mustajoki; Umeå universitet; []
   Nyckelord :Medicine; Acute intermittent porphyria; epilepsy; melatonin; diabetes mellitus; white-matter lesions; symptoms; Medicin; Medicine; medicin;

   Sammanfattning : Porphyrias are inherited metabolic disorders characterised by an impairment of heme biosynthesis. Acute intermittent porphyria (AIP) is the most common of the acute porphyrias in Sweden. Acute attacks of AIP are characterised by neuro-psychiatric symptoms, including epileptic seizures. LÄS MER

7. 25. Liver transplantation, cancer risk and comorbidity in acute porphyria

   Författare :Mattias Lissing; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : The porphyrias are a group of rare, mostly genetic, metabolic diseases caused by alterations in the eight enzymatic steps of the heme biosynthesis pathway. This thesis focuses on three of these diseases, acute intermittent porphyria (AIP), hereditary coproporhyria (HCP) and variegate porphyria (VP), collectively labeled acute porphyrias (AP) based on similarities in clinical and biochemical presentation. LÄS MER